Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families

M. Chillón, V. Nunes, T. Casals, F. J. Giménez, E. Fernández, J. Benítez, Xavier P. Estivill

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Abstract

Spanish cystic fibrosis (CF) families (n = 194) have been analysed for the ΔF508 mutation, and for closely linked DNA markers. The ΔF508 mutation accounts for 50% of CF chromosomes. Four haplotypes are associated with the deletion, and at least seven haplotypes carry other mutations. The second major CF mutation is associated with pancreatic insufficiency and occurred in the same haplotype in which the ΔF508 arose. Only 31% of Spanish CF patients with no family history of the disease can be accurately diagnosed; about 50% of CF carriers can be detected in the Spanish population.

Original languageEnglish
Pages (from-to)396-397
Number of pages2
JournalHuman Genetics
Volume85
Issue number4
DOIs
Publication statusPublished - Sep 1990
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Chillón, M., Nunes, V., Casals, T., Giménez, F. J., Fernández, E., Benítez, J., & Estivill, X. P. (1990). Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families. Human Genetics, 85(4), 396-397. https://doi.org/10.1007/BF02428272